Variant report

Variant	rs116540739
Chromosome Location	chr8:1921451-1921452
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr8:1921164-1922053	NB4	blood:	n/a	chr8:1921658-1921667 chr8:1921694-1921703 chr8:1921935-1921944
2	MYC	chr8:1921446-1921971	H1-hESC	embryonic stem cell:	n/a	chr8:1921658-1921667 chr8:1921694-1921703 chr8:1921935-1921944
3	TCF12	chr8:1921104-1922231	ECC-1	luminal epithelium:	n/a	chr8:1921349-1921359
4	POLR2A	chr8:1921236-1923740	H1-neurons	neurons:	n/a	n/a
5	POLR2A	chr8:1921116-1922244	HL-60	blood:	n/a	n/a
6	KAP1	chr8:1920966-1921517	HEK293	kidney:	n/a	n/a
7	CTCF	chr8:1921360-1921510	RPTEC	kidney:	n/a	n/a
8	REST	chr8:1921109-1922191	HL-60	blood:	n/a	chr8:1921892-1921905 chr8:1921938-1921951 chr8:1921700-1921714 chr8:1921137-1921157 chr8:1921359-1921377 chr8:1921137-1921157
9	ZBTB7A	chr8:1921406-1922941	ECC-1	luminal epithelium:	n/a	chr8:1922191-1922202 chr8:1921791-1921800 chr8:1922810-1922817
10	TAF1	chr8:1921163-1922259	ECC-1	luminal epithelium:	n/a	n/a
11	POLR2A	chr8:1921065-1922184	SK-N-MC	brain:	n/a	n/a
12	EGR1	chr8:1921306-1922283	HCT-116	colon:	n/a	chr8:1921928-1921950 chr8:1921656-1921669 chr8:1921656-1921670 chr8:1921933-1921946 chr8:1921933-1921946 chr8:1921921-1921934 chr8:1921658-1921668 chr8:1922031-1922040 chr8:1921934-1921943 chr8:1921934-1921945 chr8:1921933-1921946 chr8:1921661-1921671 chr8:1921934-1921944 chr8:1921933-1921946 chr8:1921932-1921946 chr8:1921934-1921944 chr8:1921934-1921945
13	POLR2A	chr8:1920928-1922083	MCF10A-Er-Src	breast:	n/a	n/a
14	SIN3A	chr8:1921182-1922135	H1-hESC	embryonic stem cell:	n/a	chr8:1921926-1921937
15	EGR1	chr8:1921398-1922134	ECC-1	luminal epithelium:	n/a	chr8:1921928-1921950 chr8:1921656-1921669 chr8:1921656-1921670 chr8:1921933-1921946 chr8:1921933-1921946 chr8:1921921-1921934 chr8:1921658-1921668 chr8:1922031-1922040 chr8:1921934-1921943 chr8:1921934-1921945 chr8:1921933-1921946 chr8:1921661-1921671 chr8:1921934-1921944 chr8:1921933-1921946 chr8:1921932-1921946 chr8:1921934-1921944 chr8:1921934-1921945
16	MAX	chr8:1921159-1922184	A549	lung:	n/a	chr8:1921658-1921667 chr8:1921694-1921703 chr8:1921935-1921944
17	POLR2A	chr8:1921145-1922278	HL-60	blood:	n/a	n/a
18	POLR2A	chr8:1920932-1921658	SK-N-MC	brain:	n/a	n/a
19	EGR1	chr8:1921324-1922126	ECC-1	luminal epithelium:	n/a	chr8:1921928-1921950 chr8:1921656-1921669 chr8:1921656-1921670 chr8:1921933-1921946 chr8:1921933-1921946 chr8:1921921-1921934 chr8:1921658-1921668 chr8:1922031-1922040 chr8:1921934-1921943 chr8:1921934-1921945 chr8:1921933-1921946 chr8:1921661-1921671 chr8:1921934-1921944 chr8:1921933-1921946 chr8:1921932-1921946 chr8:1921934-1921944 chr8:1921934-1921945
20	CTCF	chr8:1921320-1921470	SAEC	small airway:	n/a	n/a
21	STAT3	chr8:1921113-1921490	MCF10A-Er-Src	breast:	n/a	chr8:1921226-1921237
22	UBTF	chr8:1921382-1921577	K562	blood:	n/a	n/a
23	ZBTB7A	chr8:1921283-1923060	ECC-1	luminal epithelium:	n/a	chr8:1922191-1922202 chr8:1921791-1921800 chr8:1922810-1922817
24	EGR1	chr8:1921448-1922188	HCT-116	colon:	n/a	chr8:1921928-1921950 chr8:1921656-1921669 chr8:1921656-1921670 chr8:1921933-1921946 chr8:1921933-1921946 chr8:1921921-1921934 chr8:1921658-1921668 chr8:1922031-1922040 chr8:1921934-1921943 chr8:1921934-1921945 chr8:1921933-1921946 chr8:1921661-1921671 chr8:1921934-1921944 chr8:1921933-1921946 chr8:1921932-1921946 chr8:1921934-1921944 chr8:1921934-1921945
25	MYC	chr8:1921132-1921984	NB4	blood:	n/a	chr8:1921658-1921667 chr8:1921694-1921703 chr8:1921935-1921944
26	POLR2A	chr8:1921170-1922135	NB4	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:1921410-1921460	SAEC	small airway:	n/a
2	chr8:1921410-1921460	ovcar-3	ovarian:	n/a
3	chr8:1921410-1921460	AG09319	gingival:	n/a
4	chr8:1921410-1921460	ECC-1	luminal epithelium:	n/a
5	chr8:1921410-1921460	NB4	blood:	n/a
6	chr8:1921410-1921460	IMR90	lung:	fetal
7	chr8:1921410-1921460	HPAEpiC	pulmonary alveolar:	n/a
8	chr8:1921410-1921460	HAEpiC	amniotic membrane:	n/a
9	chr8:1921410-1921460	PANC-1	pancreas:	n/a
10	chr8:1921410-1921460	HRCEpiC	kidney:	n/a
11	chr8:1921410-1921460	AG04450	lung:	fetal
12	chr8:1921410-1921460	GM12892	blood:	n/a
13	chr8:1921410-1921460	MCF10A-Er-Src	breast:	n/a
14	chr8:1921410-1921460	AG09309	skin:	n/a
15	chr8:1921410-1921460	HCF	heart:	n/a
16	chr8:1921410-1921460	AG04449	skin:	fetal
17	chr8:1921410-1921460	HRPEpiC	eye:	n/a
18	chr8:1921410-1921460	BE2_C	brain:	n/a
19	chr8:1921410-1921460	HEK293	kidney:	embryo
20	chr8:1921410-1921460	HepG2	liver:	n/a
21	chr8:1921410-1921460	T-47D	breast:	n/a
22	chr8:1921410-1921460	SK-N-SH_RA	brain:	n/a
23	chr8:1921410-1921460	Jurkat	blood:	n/a
24	chr8:1921410-1921460	HCM	heart:	n/a
25	chr8:1921410-1921460	HNPCEpiC	eye:	n/a
26	chr8:1921410-1921460	HCPEpiC	choroid plexus:	n/a
27	chr8:1921410-1921460	GM06990	blood:	n/a
28	chr8:1921410-1921460	NT2-D1	testis:	n/a
29	chr8:1921410-1921460	NH-A	brain:	n/a
30	chr8:1921410-1921460	A549	lung:	n/a
31	chr8:1921410-1921460	SK-N-SH	brain:	n/a
32	chr8:1921410-1921460	HEEpiC	esophagus:	n/a
33	chr8:1921410-1921460	GM12891	blood:	n/a
34	chr8:1921410-1921460	NHBE	bronchial:	n/a
35	chr8:1921410-1921460	H1-hESC	embryonic stem cell:	embryo
36	chr8:1921410-1921460	Caco-2	colon:	n/a
37	chr8:1921410-1921460	MCF-7	breast:	n/a
38	chr8:1921410-1921460	HRE	kidney:	n/a
39	chr8:1921410-1921460	GM12878	blood:	n/a
40	chr8:1921410-1921460	Hepatocyte	liver:	n/a
41	chr8:1921410-1921460	PFSK-1	brain:	n/a
42	chr8:1921410-1921460	BJ	skin:	n/a
43	chr8:1921410-1921460	AG10803	skin:	n/a
44	chr8:1921410-1921460	SK-N-MC	brain:	n/a
45	chr8:1921410-1921460	HUVEC	blood vessel:	n/a
46	chr8:1921410-1921460	HCT-116	colon:	n/a
47	chr8:1921410-1921460	HMEC	breast:	n/a
48	chr8:1921410-1921460	ProgFib	skin:	n/a
49	chr8:1921410-1921460	GM19239	blood:	n/a
50	chr8:1921410-1921460	RPTEC	kidney:	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CSMD1-7	chr8:1921314-1921511	ENSG00000253764.1
2	lnc-CSMD1-7	chr8:1921314-1921776	ENSG00000253764.1

Variant related genes	Relation type
KBTBD11	TF binding region
ENSG00000270988	TF binding region
KBTBD11	CpG island
ENSG00000270988	CpG island

Extended variants
information (count: 23 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv889704	chr8:1563904-1965389	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv889708	chr8:1581839-1965389	Genic enhancers Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv889709	chr8:1581839-1965389	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv889712	chr8:1591412-2337777	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv889714	chr8:1616718-1965389	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv609531	chr8:1717036-1965389	Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv889717	chr8:1746950-1924237	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
8	nsv889724	chr8:1756800-1965389	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv889729	chr8:1800560-1947417	Genic enhancers Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
10	nsv889731	chr8:1868842-1965389	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv889736	chr8:1892069-1965389	Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv889738	chr8:1897249-1965389	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv824473	chr8:1914305-1965389	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv824474	chr8:1915145-1960212	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv824477	chr8:1915145-1965389	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv889740	chr8:1916347-1954464	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv889741	chr8:1916347-1955283	Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	nsv889742	chr8:1918352-1955142	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
19	nsv1015930	chr8:1919596-1952936	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
20	esv1839364	chr8:1920461-1951163	Strong transcription Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
21	esv3489278	chr8:1921020-1923843	Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
22	esv3489279	chr8:1921020-1923843	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
23	esv3326517	chr8:1921070-1924118	Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1919600-1923000	Active TSS	Duodenum Mucosa	Duodenum
2	chr8:1919800-1923200	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr8:1920000-1922400	Active TSS	Colonic Mucosa	Colon
4	chr8:1920600-1921600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr8:1920600-1922800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:1920800-1921600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr8:1920800-1921600	Flanking Active TSS	Primary T cells from cord blood	blood
8	chr8:1920800-1921600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
9	chr8:1920800-1921600	Flanking Active TSS	Fetal Brain Female	brain
10	chr8:1920800-1921800	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr8:1920800-1921800	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr8:1920800-1921800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chr8:1920800-1921800	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr8:1920800-1921800	Flanking Active TSS	Brain Germinal Matrix	brain
15	chr8:1920800-1922000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr8:1920800-1922200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
17	chr8:1920800-1923200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr8:1920800-1923400	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr8:1920800-1923400	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr8:1921000-1921600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
21	chr8:1921000-1921600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
22	chr8:1921000-1921600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr8:1921000-1921600	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr8:1921000-1921600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
25	chr8:1921000-1921600	Flanking Active TSS	Liver	Liver
26	chr8:1921000-1921600	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
27	chr8:1921000-1921600	Flanking Active TSS	Fetal Brain Male	brain
28	chr8:1921000-1921600	Flanking Active TSS	Fetal Muscle Leg	muscle
29	chr8:1921000-1921600	Flanking Active TSS	Fetal Thymus	thymus
30	chr8:1921000-1921600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
31	chr8:1921000-1921600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
32	chr8:1921000-1921600	Flanking Active TSS	HSMM	muscle
33	chr8:1921000-1921600	Flanking Active TSS	HSMMtube	muscle
34	chr8:1921000-1921600	Flanking Bivalent TSS/Enh	Osteobl	bone
35	chr8:1921000-1921800	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr8:1921000-1921800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr8:1921000-1921800	Flanking Bivalent TSS/Enh	NH-A	brain
38	chr8:1921000-1921800	Bivalent/Poised TSS	NHDF-Ad	bronchial
39	chr8:1921000-1922000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
40	chr8:1921000-1922600	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr8:1921000-1922800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr8:1921000-1922800	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
43	chr8:1921000-1923000	Active TSS	Brain Substantia Nigra	brain
44	chr8:1921000-1923200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
45	chr8:1921000-1923200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
46	chr8:1921000-1923200	Active TSS	Aorta	Aorta
47	chr8:1921000-1923200	Active TSS	Brain Angular Gyrus	brain
48	chr8:1921000-1923200	Active TSS	Brain Anterior Caudate	brain
49	chr8:1921000-1923200	Active TSS	Brain Cingulate Gyrus	brain
50	chr8:1921000-1923200	Active TSS	Brain Inferior Temporal Lobe	brain

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